Fabry Disease

Definition

Fabry disease is a metabolic disorder
that is part of a group known as lysosomal storage diseases.
It causes
fatty substances
to
build up in the blood and blood vessels. The buildup slows or blocks blood flow to the organs. It can cause problems in the skin, kidneys, heart, and nervous system.

Causes

Fabry disease
is caused by low levels of an enzyme called alpha galactosidase-A due to a problem in the genes. This enzyme is needed to break down fatty substances.
The specific genes that create the enzymes are faulty. The faulty gene is inherited from the parents.

Males who inherit the defective gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not develop any symptoms, but they can pass the gene to their offspring. However, some women do have symptoms. On occasion, women may be as severely affected as men.

Risk Factors

Factors that may increase your risk of Fabry disease include:

Having family members with the disease

Having a family history of kidney failure

Symptoms

Symptoms may begin in childhood or early adulthood. Common symptoms include:

Pain and burning sensations in the hands and feet—often worse during exercise, fatigue, or fever

Spotted, dark reddish-purple skin lesions between the belly button and the knees

Decreased sweating

Vision problems

Hearing loss

Delayed puberty or delayed growth

As adults, males may have the following complications due to blood vessel blockage:

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done. Diagnosis is usually made based on the symptoms listed above. A test to measure the
alpha galactosidase-A
enzyme or DNA test can confirm Fabry disease.

Treatment

There is no cure for Fabry disease. There is a medication to treat the condition. The medication works as an enzyme replacement. It is given through an IV at regular intervals.

Treatment may also involve other medications to reduce symptoms such as:

Pain medications—may be over-the-counter or prescription medications

Medications to treat stomach hyperactivity

Blood thinners and medication to manage arrhythmias and other heart disorders

The kidneys may be damaged from blood flow problems. They may require:

Prevention

There is no known way to prevent Fabry disease. Consider genetic counseling if you have Fabry disease or have a family history of the disorder. The counselor can show you the risk of passing the condition on to your child.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.